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Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which includes WGS data from 5,100 individuals with ASD and 6,212 non-ASD parents and siblings (total n = 11,312). Examining a wide variety of genetic variants in MSSNG and the Simons Simplex Collection (SSC; n = 9,205), we identified ASD-associated rare variants in 718/5,100 individuals with ASD from MSSNG (14.1%) and 350/2,419 from SSC (14.5%). Considering genomic architecture, 52% were nuclear sequence-level variants, 46% were nuclear structural variants (including copy-number variants, inversions, large insertions, uniparental isodisomies, and tandem repeat expansions), and 2% were mitochondrial variants. Our study provides a guidebook for exploring genotype-phenotype correlations in families who carry ASD-associated rare variants and serves as an entry point to the expanded studies required to dissect the etiology in the ∼85% of the ASD population that remain idiopathic.

With brain structure and function undergoing complex changes throughout childhood and adolescence, age is a critical consideration in neuroimaging studies, particularly for those of individuals with neurodevelopmental conditions. However, despite the increasing use of large, consortium‐based datasets to examine brain structure and function in neurotypical and neurodivergent populations, it is unclear whether age‐related changes are consistent between datasets and whether inconsistencies related to differences in sample characteristics, such as demographics and phenotypic features, exist. To address this, we built models of age‐related changes of brain structure (regional cortical thickness and regional surface area; N = 1218) and function (resting‐state functional connectivity strength; N = 1254) in two neurodiverse datasets: the Province of Ontario Neurodevelopmental Network and the Healthy Brain Network. We examined whether deviations from these models differed between the datasets, and explored whether these deviations were associated with demographic and clinical variables. We found significant differences between the two datasets for measures of cortical surface area and functional connectivity strength throughout the brain. For regional measures of cortical surface area, the patterns of differences were associated with race/ethnicity, while for functional connectivity strength, positive associations were observed with head motion. Our findings highlight that patterns of age‐related changes in the brain may be influenced by demographic and phenotypic characteristics, and thus future studies should consider these when examining or controlling for age effects in analyses. [ABSTRACT FROM AUTHOR]

Virtual reality provides a relatively inexpensive way to learn and repeatedly practice skills in personalized, controlled, and safe computer-generated settings. These systems are increasingly receiving attention as an innovative medium for delivering interventions to children with autism spectrum disorder. Although many virtual reality systems are commercially available and their use is increasing, little is known about the safety and usability of these systems for children with autism spectrum disorder. The aim of this study was a first step in addressing this gap. A convenience sample of 35 children with a diagnosis of autism spectrum disorder participated in an immersive head-mounted display virtual reality experience and a control condition (monitor-displayed video). Levels of anxiety and negative effects experienced were not significantly different between the two conditions. Participants reported significantly enhanced spatial presence (p = 0.003; d = 0.3) and naturalness (p = 0.002; d = 0.47) for the head-mounted display-virtual reality condition, and 74% of participants preferred using head-mounted display-virtual reality over monitor-displayed video. These findings provide preliminary evidence to support the safety and usability of head-mounted display-virtual reality for children with autism spectrum disorder. Future studies are needed to replicate the results in a larger sample, a range of virtual reality experiences, and in the context of long-term exposure.

Functional handwriting involves complex interactions among physical, cognitive and sensory systems. Impairments in many aspects of these systems are associated with Autism spectrum disorders (ASD), suggesting a heightened risk of handwriting difficulties in children with ASD. This scoping review aimed to: (1) survey the existing evidence about potential contributions to compromised handwriting function in children with ASD, and (2) map out the existing studies documenting handwriting difficulties in children with ASD. The current evidence implicates impairments in fine motor control and visual-motor integration as likely contributors to handwriting difficulties in children with ASD, though the role of the latter is not well-understood. Moreover, diminished overall legibility and compromised letter formation are emerging points of convergence among existing studies of handwriting quality in children with ASD. (Contains 1 table and 2 figures.)

Handwriting difficulties or dysgraphia have a profound impact on children's psychosocial development, and yet, 10-30% of school-aged children are reported to experience difficulties mastering this skill. Several studies have examined the nature and biomechanical underpinnings of handwriting difficulties in children with and without dysgraphia. While the majority of these studies have considered short handwriting activities involving a sentence or a paragraph, handwriting quality and speed are reported to vary with the length of the writing task. Further, it is suggested that the biomechanics of handwriting also evolve over extended writing periods, and that these changes may be distinct between children with and without dysgraphia. The nature and specificity of these biomechanical alterations remain unknown. To address this knowledge gap, we examined changes in writing speed, grip forces on the pen barrel, and normal forces on the writing surface, over the course of a 10-min writing task, in a large cohort of 4th grade children with and without dysgraphia. Horizontal stroke speed, grip force and normal force increased over time while vertical stroke speed decreased in all children. These biomechanical changes may be attributable to physical and psychological fatigue and the corresponding compensatory processes invoked by the motor system.

>From a perceptual standpoint, the subjectivity inherent in understanding and interpreting visual content in multimedia indexing and retrieval motivates the need for online interactive learning. Since efficiency and speed are important factors in interactive visual content retrieval, most of the current approaches impose restrictive assumptions on similarity calculation and learning algorithms. Specifically, content-based image retrieval techniques generally assume that perceptually similar images are situated close to each other within a connected region of a given space of visual features. This paper proposes a novel method for interactive image retrieval using query feedback. Query feedback learns the user query as well as the correspondence between high-level user concepts and their low-level machine representation by performing retrievals according to multiple queries supplied by the user during the course of a retrieval session. The results presented in this paper demonstrate that this algorithm provides accurate retrieval results with acceptable interaction speed compared to existing methods. Index Terms--Feature combination, fuzzy aggregation operators, interactive content-based image retrieval, MPEG-7 visual descriptors, multiple queries, relevance feedback, similarity calculations.

A decision-making framework is proposed for content-based retrieval of art images from artistic repositories based on a combination of low-level features. The results show that the aggregation technique provides an effective, general, and flexible tool for similarity calculation based on the combination of individual descriptors and features.

Abstract Background There are no effective medications for the treatment of social cognition/function deficits in autism spectrum disorder (ASD), and adult intervention literature in this area is sparse. Emerging data from animal models and genetic association studies as well as early, single-dose intervention studies suggest that the oxytocin system may be a potential therapeutic target for social cognition/function deficits in ASD. The primary aim of this study was to examine the safety/therapeutic effects of intranasal oxytocin versus placebo in adults with ASD, with respect to the two core symptom domains of social cognition/functioning and repetitive behaviors. Methods This was a pilot, randomized, double-blind, placebo-controlled, parallel design trial of intranasal oxytocin versus placebo in 19 adults with ASD (16 males; 33.20 ± 13.29 years). Subjects were randomized to 24 IU intranasal oxytocin or placebo in the morning and afternoon for 6 weeks. Measures of social function/cognition (the Diagnostic Analysis of Nonverbal Accuracy) and repetitive behaviors (Repetitive Behavior Scale Revised) were administered. Secondary measures included the Social Responsiveness Scale, Reading-the-Mind-in-the-Eyes Test and the Yale Brown Obsessive Compulsive Scale – compulsion subscale and quality of life (World Health Organization Quality of Life Questionnaire – emotional/social subscales). Full-information maximum-likelihood parameter estimates were obtained and tested using mixed-effects regression analyses. Results Although no significant changes were detected in the primary outcome measures after correcting for baseline differences, results suggested improvements after 6 weeks in measures of social cognition (Reading-the-Mind-in-the-Eyes Test, p = 0.002, d = 1.2), and quality of life (World Health Organization Quality of Life Questionnaire – emotion, p = 0.031, d = 0.84), both secondary measures. Oxytocin was well tolerated and no serious adverse effects were reported. Conclusions This pilot study suggests that there is therapeutic potential to daily administration of intranasal oxytocin in adults with ASD and that larger and longer studies are warranted. Trial registration NCT00490802

Abstract Background Near-infrared spectroscopy (NIRS) is an optical imaging technology that has recently been investigated for use in a safe, non-invasive brain-computer interface (BCI) for individuals with severe motor impairments. To date, most NIRS-BCI studies have attempted to discriminate two mental states (e.g., a mental task and rest), which could potentially lead to a two-choice BCI system. In this study, we attempted to automatically differentiate three mental states - specifically, intentional activity due to 1) a mental arithmetic (MA) task and 2) a mental singing (MS) task, and 3) an unconstrained, "no-control (NC)" state - to investigate the feasibility of a three-choice system-paced NIRS-BCI. Results Deploying a dual-wavelength frequency domain near-infrared spectrometer, we interrogated nine sites around the frontopolar locations while 7 able-bodied adults performed mental arithmetic and mental singing to answer multiple-choice questions within a system-paced paradigm. With a linear classifier trained on a ten-dimensional feature set, an overall classification accuracy of 56.2% was achieved for the MA vs. MS vs. NC classification problem and all individual participant accuracies significantly exceeded chance (i.e., 33%). However, as anticipated based on results of previous work, the three-class discrimination was unsuccessful for three participants due to the ineffectiveness of the mental singing task. Excluding these three participants increases the accuracy rate to 62.5%. Even without training, three of the remaining four participants achieved accuracies approaching 70%, the value often cited as being necessary for effective BCI communication. Conclusions These results are encouraging and demonstrate the potential of a three-state system-paced NIRS-BCI with two intentional control states corresponding to mental arithmetic and mental singing.